Canonical Allele Identifier: CA392337876

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48733920T>A (hg19) ; chr15:g.48441723T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441723T>A , CM000677.2:g.48441723T>A	GRCh38
NC_000015.9:g.48733920T>A , CM000677.1:g.48733920T>A	GRCh37
NC_000015.8:g.46521212T>A	NCBI36
NG_008805.2:g.209066A>T , LRG_778:g.209066A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6161A>T	ENSP00000453958.2:p.Gln2054Leu
ENST00000674301.2:c.6161A>T	ENSP00000501333.2:p.Gln2054Leu
ENST00000316623.10:c.6161A>T MANE Select	ENSP00000325527.5:p.Gln2054Leu
ENST00000674301.1:c.1160A>T	ENSP00000501333.1:p.Gln387Leu
ENST00000316623.9:c.6161A>T	ENSP00000325527.5:p.Gln2054Leu
ENST00000537463.6:c.*1924A>T	ENSP00000440294.2:n.*1924A>T
ENST00000559133.5:c.1468A>T
ENST00000560820.1:n.281A>T
NM_000138.4:c.6161A>T , LRG_778t1:c.6161A>T	NP_000129.3:p.Gln2054Leu
NM_000138.5:c.6161A>T MANE Select	NP_000129.3:p.Gln2054Leu